tailieunhanh - Báo cáo y học: "Using ontologies to describe mouse phenotypes"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học quốc tế cung cấp cho các bạn kiến thức về ngành y đề tài: Using ontologies to describe mouse phenotypes. | Method Using ontologies to describe mouse phenotypes Georgios V Gkoutos Eain CJ Green Ann-Marie Mallon John M Hancock and Duncan Davidson Open Access Addresses Bioinformatics Group MRC Mammalian Genetics Unit Harwell Oxfordshire OX11 0RD UK. MRC Human Genetics Unit Edinburgh EH4 2XU UK. Correspondence Georgios V Gkoutos. E-mail Published 20 December 2004 Genome Biology 2004 6 R8 The electronic version of this article is the complete one and can be found online at http 2004 6 1 R8 Received 6 September 2004 Revised 11 November 2004 Accepted 6 December 2004 2004 Gkoutos et al. licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract The mouse is an important model of human genetic disease. Describing phenotypes of mutant mice in a standard structured manner that will facilitate data mining is a major challenge for bioinformatics. Here we describe a novel compositional approach to this problem which combines core ontologies from a variety of sources. This produces a framework with greater flexibility power and economy than previous approaches. We discuss some of the issues this approach raises. Background Mutant mice are the premier genetic models for human diseases. An increasing number of laboratories and companies worldwide are now carrying out detailed analyses of mouse phenotypes that have been generated from large-scale mutagenesis of the mouse genome. Description of mouse phenotypes has not traditionally adhered to predefined rules or been recorded in databases. However the sheer volume of data from high-throughput screens such as N-eLhyl-N-niLro-sourea ENU mutagenesis 1 is now driving the need to manage information about mutants in a paperless environment and to build databases